Mayer-Rokitansky-Küstner syndrome.

Mayer-Rokitansky-Küstner syndrome is a congenital defect of the reproductive organs in women, when the uterus and vagina are either completely absent (aplasia) or have developmental defects. Vaginal aplasia was described in the early 19th century by the German scientist Mayer. Rokitansky and Küster supplemented this diagnosis by discovering that the uterus may also be absent with normally functioning ovaries. Externally, this defect is not noticeable, women have all secondary sexual characteristics (breasts and hair in the genital area), completely normal external genitalia. The chromosome set is also standard. Mayer-Rokitansky-Küstner syndrome is often accompanied by anomalies in the structure of the urinary system and spine.

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Causes Mayer-Rokitansky-Küstner syndrome.

The causes of Mayer-Rokitansky-Küstner syndrome have not been fully determined, so there are no clear answers about the nature of the defect. In isolated cases, developmental disorders in the embryo at the embryonic stage were detected. These anomalies concerned the so-called Müllerian ducts, from which female genitals emerge at a later stage. It is suspected that this defect may be caused by a deficiency in the production of a certain protein (MIS) in the embryonic rudiment, the influence of chemicals on it, including drugs, diabetes mellitus that developed during pregnancy. A genetic predisposition to the syndrome was also monitored; several cases of the disease were identified in one family.

Research shows that changes in the structure of DNA, and therefore information in the gene and heredity, are related to the deficiency of certain enzymes and disturbances in the metabolic processes of the pregnant woman's body. The duration and strength of these effects play an important role. If this occurs during a critical period (the time of intensive cell division and organ formation), then the probability of this defect of the reproductive system may appear.

Risk factors

Risk factors for Mayer-Rokitansky-Küstner syndrome are various pathologies that accompany pregnancy, especially in its early stages. These include both uterine defects (underdevelopment, incorrect position, tumors) and general diseases. At the embryonic stage of fetal development, its nutrition may be disrupted due to cardiovascular diseases. So, rheumatism of the heart and hypertension are characterized by vascular spasms, as a result of which metabolic processes between the mother and the fetus are disrupted. The mother's body, including the placenta, does not receive enough oxygen, and this affects the formation of the fetus's organs and their development.

An unfavorable factor in the development of the syndrome may be hormonal disorders, including aging of the body. Patients with diabetes mellitus have more frequent cases of infertility, miscarriages and other abnormalities. Treatment with hormonal drugs, especially in the first trimester of pregnancy, can also lead to developmental defects.

The Rhesus factor conflict disrupts the protective barrier of the placenta, which means it makes the fetus an easier target for various adverse agents.

Pathogenesis

The pathogenesis of Mayer-Rokitansky-Küstner syndrome is not well understood.

One thing is obvious, that with such severe defects of the genital organs, the ovaries are normally developed and function. The usual process of ovulation occurs in them, when the egg leaves the follicle and leaves the ovary, and in its place the corpus luteum is formed. The epidemiology of aplasia of the uterus and upper vagina or in combination with anomalies of other organs indicates that the frequency of their detection is one episode per 5 thousand newborn girls. Single cases of the disease are more common than genetically inherited ones.

Symptoms Mayer-Rokitansky-Küstner syndrome.

Symptoms of Mayer-Rokitansky-Kustner syndrome are not detected in childhood, since there are no visible abnormalities of the external genitalia. The first sign of the syndrome is the absence of menstruation at the age when puberty usually occurs (11-14 years). 40% of patients have abnormalities in the structure of the skeleton and urinary system disorders (the kidney may be horseshoe-shaped or absent, the ureters are doubled).

Stages

There are two stages of Mayer-Rokitansky-Küstner syndrome: complete absence of the uterus and vagina and partial. In partial, the uterus has one or two horns and thin, not fully developed fallopian tubes. Very rarely, a rudimentary cavity with endometrium is found in one of the horns.

Mayer-Rokitansky-Kustner syndrome can be divided into several types: isolated and familial (inherited) cases. This pathology can also be classified as isolated or in combination with defects of other organs (kidneys, spine, heart).

Complications and consequences

Infertility is the main consequence of Mayer-Rokitansky-Küstner syndrome. There are also periodic pains in the lower abdomen, which is associated with the maturation of the egg during the period of imaginary menstruation. Serious complications arise when perineal ruptures occur during sexual intercourse, and sometimes the bladder and rectum.

Diagnostics Mayer-Rokitansky-Küstner syndrome.

Diagnosis of Mayer-Rokitansky-Küstner syndrome consists of the following stages:

• collecting information about the symptoms of the disease, the presence of allergic reactions, hereditary diseases, pregnancies, previous operations, etc.;
• examination by a gynecologist on a chair. Usually the doctor confirms the normal development of the woman's external genitalia, its compliance with age norms;
• probing of the vagina. This stage makes it possible to determine the blind-ending shortened vagina (1-1.5 cm);
• palpation of the uterus through the rectum reveals connective tissue threads (cords) at the site of the uterus and appendages;
• conducting laboratory and clinical studies;
• ultrasound examination of the genitourinary system.

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Tests

In Mayer-Rokitansky-Küstner syndrome, urine and blood tests include hormonal testing to obtain a picture of the hormonal background. The urine is tested for the sex hormones pregnanediol and estrogens. Pregnanediol is a product of the metabolism of the hormone progesterone, estrogens are the general name for a number of hormonal compounds that play an important role in metabolism. In Mayer-Rokitansky-Küstner syndrome, these indicators are normal.

A blood test examines plasma for gonadotropins and steroids. Gonadotropin is a hormone produced by the placenta during pregnancy, steroid hormones regulate metabolic processes. With this syndrome, these hormones are also normal. General and biochemical blood tests and general urine tests will indicate the presence of concomitant diseases. Bacterioscopic and bacteriological analysis of a smear of discharge will indicate the condition of the epithelium, the number of leukocytes, the presence of mucus, bacteria, fungi, i.e. the composition of the microflora of the genital tract. This will make it possible to identify inflammations and venereal diseases.

Instrumental diagnostics

Instrumental diagnostics include ultrasound examination or magnetic resonance imaging of the pelvis, which will confirm the absence or underdevelopment of the uterus and vagina, and will reveal defects of the kidneys, ureters and other organs. To clarify the degree of anomaly, diagnostic laparoscopy is performed.

Determination of normal ovarian function is done by measuring the basal temperature with a thermometer. This procedure involves measuring the temperature in the vagina or rectum from 7 am to 7.30 am, without getting out of bed. To collect a smear, you need a special spatula or shovel, a gynecological mirror, and a glass slide.

Differential diagnosis

Differential diagnostics of Mayer-Rokitansky-Küstner syndrome consists of distinguishing it from testicular feminization syndrome, which is also called false male hermaphroditism in patients with female genitalia. Both syndromes are characterized by a female phenotype of the patient's appearance, the absence of a menstrual cycle, and anomalies of the vagina and uterus. At the same time, testicular feminization is characterized by a complete or partial absence of hair in the groin and armpits, and the formation of the external genitalia is impaired. Unlike Mayer-Rokitansky-Küstner syndrome, the set of chromosomes in such women is male (46 XY), and testicles are found in the inguinal canals or abdominal cavity.

Treatment Mayer-Rokitansky-Küstner syndrome.

All treatment for Mayer-Rokitansky-Kustner syndrome consists of eliminating factors that prevent normal sexual intercourse. There is only one method for this - to form an artificial vagina by surgical intervention. It is impossible to give birth to a child with such an anomaly.

If the vagina is underdeveloped, if it is 2-4 cm long, there is a way to enlarge it using procedures such as bougienage and dilation. Bougienage is stretching the vagina yourself using a dildo. It must be carefully inserted into the vagina twice a day, making smooth circular movements for 10-20 minutes. The result can be obtained after six months of performing such exercises.

The principle of vaginal dilation (expansion) is also used. The dilator is placed in the vaginal cavity and affects it with a certain pressure. The procedure is performed daily 2-3 times a day for 20-30 minutes. When the size of the dilator begins to correspond to the size of the vagina, an enlarged one is taken and repeated again. To achieve the set goal, at least three months are needed.

Surgical treatment

The only method to help patients lead a normal sexual life in the absence of a vagina or a very short one is surgical treatment. It consists of the formation of an artificial one - colpopoiesis.

There are two methods of surgical intervention: open surgery and laparoscopy. Laparoscopic colpopeosis is preferable, as it gives a better aesthetic result. The operation consists of forming a new vagina from the sigmoid colon. If it is impossible to use this material, a vagina can be formed from the pelvic peritoneum, small intestine or transverse colon.

Microflora and epithelium of the new vagina correspond to natural ones on average after 3 months. Sexual activity is possible after a month and it is necessary to conduct it regularly after the operation or do bougienage, since sclerosis, stenosis and atrophy of the intestine are possible.

Prevention

Prevention of Mayer-Rokitansky-Küstner syndrome comes down to recommendations for pregnant women, especially in the first weeks of pregnancy, when the fetus is in the embryonic stage. It is necessary to maintain a healthy lifestyle, avoid drinking alcohol, nicotine, medications, stress. Strong physical activity should also be excluded, try to avoid traumatic moments.

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Forecast

The prognosis for Mayer-Rokitansky-Küstner syndrome is half-measures, since treatment is aimed at making the woman fit for normal sexual life, but does not eliminate the developmental defect. It is impossible to get pregnant on your own with such a diagnosis, but due to the normal function of the ovary, it is possible to fertilize an egg "in a test tube" and implant it in a surrogate mother (in vitro fertilization).